J Lab Med Qual Assur.
2009 Jun;31(1):161-181.
Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2008)
- Affiliations
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- 1Diagnostic Genetics Subcommittee, The Korea Association of Quality Assurance for Clinical Laboratory, Seoul, Korea. sunnyhk@smc.samsung.co.kr
Abstract
- The quality control for genetic tests would be of great importance as the test volume and clinical demands increase dramatically. Diagnostic genetics subcommitee of KSQACP performed two trials for cytogenetic study in 2008. A total of 41 laboratories participated in the cytogenetic surveys, and most of them showed acceptable results. However, some laboratories showed unacceptable results for the karyotype nomenclature and detection of complex cytogenetic abnormalities in hematologic neoplasias. The molecular genetics surveys included various tests: M. tuberculosis detection, hepatitis B (HBV) and C virus (HCV) detection and quantification, human papilloma virus (HPV) genotyping, gene rearrangement tests for leukemias and lymphomas, apolipoprotein E (APOE) genotyping, methylenetetrahydrofolate reductase (MTHFR) genotyping, hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), and genetic tests for hereditary disorders such as spinal muscular atrophy (SMA), Huntington disease (HD), spinocerebellar ataxia (SCA), Prader-Willi/Angelman syndrome (PWS/AS), mitochondrial encephalopathy with lactic acidosis and strokelike episodes (MELAS), myoclonic epilepsy ragged red fiber (MERRF), wilson disease (ATP7B) and cancer-associated genes (KRAS). Molecular genetic surveys showed excellent results in most of the participants. External quality assessment program for genetic analysis in 2008 was proved to be helpful in continuous education and evaluation of quality improvement.
MeSH Terms
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Acidosis, Lactic
Apolipoproteins
Breast
Chromosome Aberrations
Cytogenetics
Epilepsies, Myoclonic
Gene Rearrangement
Hepatitis B
Hepatolenticular Degeneration
Humans
Huntington Disease
Karyotype
Korea
Leukemia
Lymphoma
Methylenetetrahydrofolate Reductase (NADPH2)
Mitochondrial Encephalomyopathies
Molecular Biology
Muscular Atrophy, Spinal
Ovarian Neoplasms
Papilloma
Quality Control
Quality Improvement
Spinocerebellar Ataxias
Tuberculosis
Viruses
Apolipoproteins
Methylenetetrahydrofolate Reductase (NADPH2)
Mitochondrial Encephalomyopathies
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